Linked Data
ClinVar Variation Id:
2855736
ClinVar RCV Id:
RCV003701567
MyVariant Identifiers:
chr18:g.12329594C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12329595C>T , CM000680.2:g.12329595C>T | GRCh38 |
| NC_000018.9:g.12329594C>T , CM000680.1:g.12329594C>T | GRCh37 |
| NC_000018.8:g.12319594C>T | NCBI36 |
| NG_023361.1:g.52682G>A , LRG_666:g.52682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1960G>A (AFG3L2) | ENSP00000508998.1:n.*1960G>A | |
| ENST00000687477.1:n.900G>A (AFG3L2) | ||
| ENST00000688199.1:c.2226G>A (AFG3L2) | ENSP00000510237.1:p.Glu742= | |
| ENST00000691179.1:c.2289G>A (AFG3L2) | ENSP00000509010.1:p.Glu763= | |
| ENST00000691970.1:c.*1741G>A (AFG3L2) | ENSP00000508440.1:n.*1741G>A | |
| ENST00000692497.1:c.*794G>A (AFG3L2) | ENSP00000509870.1:n.*794G>A | |
| ENST00000692988.1:n.2182G>A (AFG3L2) | ||
| ENST00000269143.8:c.2364G>A (AFG3L2) MANE Select | ENSP00000269143.2:p.Glu788= | |
| ENST00000269143.7:c.2364G>A (AFG3L2) | ENSP00000269143.2:p.Glu788= | |
| ENST00000586691.1:c.88-14454C>T (TUBB6) | ||
| ENST00000590967.5:c.278-7518C>T (TUBB6) | ENSP00000465386.1:n.278-7518C>T | |
| ENST00000591909.5:c.*412C>T (TUBB6) | ENSP00000465040.1:n.*412C>T | |
| NM_001303525.1:c.*412C>T (TUBB6) | NP_001290454.1:n.*412C>T | |
| NM_006796.2:c.2364G>A , LRG_666t1:c.2364G>A (AFG3L2) | NP_006787.2:p.Glu788= | |
| XM_011525601.1:c.2163G>A (AFG3L2) | XP_011523903.1:p.Glu721= | |
| XM_011525601.3:c.2163G>A (AFG3L2) | XP_011523903.1:p.Glu721= | |
| NM_006796.3:c.2364G>A (AFG3L2) MANE Select | NP_006787.2:p.Glu788= | |
| NM_001303525.2:c.*412C>T (TUBB6) | NP_001290454.1:n.*412C>T |